Duchenne's Muscular Dystrophy Advance

Drug May Partially Correct Deadly Form of Muscular Dystrophy

Medically Reviewed by Louise Chang, MD on December 27, 2007
From the WebMD Archives

Dec. 27, 2007 -- An "antisense" compound may partially correct thegenetic defect that causes deadly Duchenne's muscular dystrophy.

Researchers are not calling the finding a breakthrough, but they arecautiously optimistic that the approach may one day lead to a treatment thatextends the lives of people afflicted with the always-fatal disease.

Duchenne's muscular dystrophy is a genetic disease seen in one in 3,500 babyboys. The boy's muscles get weaker and weaker, landing them in wheelchairs bytheir twelfth birthday. Their hearts and lungs also weaken, and the brain maybe affected.

Most of these boys die in early childhood; with steroid treatment andbreathing aids, their life span can be as long as 25 to 35 years. Nothing,however, prevents eventual death.

Now there's a small glimmer of hope. Scientists now know the specificgenetic mutation that causes Duchenne's muscular dystrophy. That mutationcauses a "misreading" of the gene that encodes dystrophin, a substancecrucial for muscle cell survival.

In the test tube, a compound called an antisense oligonucleotide partiallycorrects this genetic misreading. It seems to work in animals. Might it work inhumans?

Judith C. van Deutekom, PhD, of Netherlands' Leiden University, andcolleagues tested the treatment, called PRO051, in four 10- to 13-year-old boyswith Duchenne's muscular dystrophy. They'd all been confined to wheelchairssince ages 7 to 11.

Each boy got a single treatment -- four injections -- in a leg muscle.The idea wasn't to cure the boys, but to make sure nothing bad happened and tosee whether the genetic correction works in humans.

The answer: Nobody got hurt by the treatment. And at the site of theinjections, there were signs of dystrophin production.

On the downside, there was evidence that the disease in these young boys mayhave already advanced too far for an eventual treatment to be much help. Futureclinical trials may require even younger patients.

The treatment, van Deutekom and colleagues cautiously conclude, "may bea potential approach to restoring dystrophin synthesis in the muscles ofpatients with Duchenne's muscular dystrophy."

The researchers report their findings in the Dec. 27 issue of TheNew England Journal of Medicine.

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SOURCES: van Deutekom, J.C. The  England Journal of Medicine, Dec. 27, 2007; vol 357: pp 2677-2686.

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